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Immunodeficiency Evaluation for Chronic Infections in Infants and Children Testing

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Recurrent respiratory infections with or without chronic diarrhea
Severe viral infections; Candida or other fungal infections;
recurrent sinopulmonary infections
Abscesses, pneumonia, delayed separation of umbilical cord;
recurrent respiratory infections with or without diarrhea
CONSIDER
Immunoglobulins (IgA, IgG, IgM), Quantitative
Lymphocyte Subset Panel 6 - Total Lymphocyte Enumeration with
CD45RA and CD45RO or Lymphocyte Subset Panel 7 Congenital
Immunodeficiencies
Response to polyvalent pneumococcal vaccine if >2 years
Response to DT vaccine
Sweat Chloride testing (at accredited cystic fibrosis center)
low IgG, IgM,
IgA
OR
poor
antibody
response to
vaccination
ORDER
B-Cell
Immunodeficiency
Profile
no B-cells
present
Bruton X-linked
agammaglobulinemia
high IgM
low IgG, IgA
B-cells
present
Common variable
immune deficiency
(CVID) or other
immune deficiency
CD 40
Ligand
testing
Possible
Hyper
IgM
Syndrome
Immunology consult
May need
immunoglobulin
replacement
positive
sweat
chloride
Cystic fibrosis
low IgA
ORDER
Immunoglobulin
G Subclasses
(1, 2, 3, 4)
IgA absent
Low IgG 2,4
Poor
pneumococcal
vaccine
response
Immunology consult
May need immunoglobulin
replacement with low IgA
containing preparation
IgA absent
Normal IgG
subclasses
Warn of possible reaction
to IgA- containing blood
products
Symptomatic
treatment
Test of choice in children 18 months is HIV PCR
(antibodies do not work in infants)
ORDER
Lymphocyte Subset Panel 6 - Total Lymphocyte
Enumeration with CD45RA and CD45RO or Lymphocyte
Subset Panel 7 Congenital Immunodeficiencies
AND
Lymphocyte Antigen and Mitogen Proliferation Panel
low T-cell
low LAM
abnormal
facies
hypocalcemia
Possible severe
combined
immunodeficiency
ORDER
Adenosine
Deaminase, RBC
Purine Nucleoside
Phosphorylase
Toll-Like Receptor
Function
Also consider IL-2R
gamma chain defect or
other related diseases
low T-cell
low LAM
DiGeorge
syndrome
HIV positive
See HIV
algorithms
Decreased
response to
Candida
ORDER
Toll-Like
Receptor
Function
Assay
Possible
chronic
mucocutaneous
candidiasis
ORDER
Immunoglobulins (IgA, IgG, IgM), Quantitative
Complement Activity Enzyme Immunoassay, Total and AH50
CBC with Platelet Count and Automated Differential
Neutrophil Oxidative Burst Assay (DHR)
Leukocyte Adhesion Deficiency Panel
Myeloperoxidase Stain
Lymphocyte Subset Panel 7 Congenital Immunodeficiencies
low IgG or
IgM
Hypogammaglobulinemia
abnormal
complement
activity
Possible
complement
deficiency
Genetic
testing
increased
IgE
Possible Hyper IgE
syndrome
(Job syndrome)
Candida
specific IgE
neutrophil
chemotaxis
low
neutrophil
count
Kostmann
agranulocytosis
Hematology consult
May need
granulocyte colony
stimulating factor
Neutrophil
antibody
positive
Autoimmune
neutropenia
2006 ARUP Laboratories. All Rights Reserved. Revised 01/19/2012 www.arupconsult.com
ORDER
Chromosome
FISH,
Metaphase
(specify 22q11
deletion)
positive
for
deletion ORDER
B-Cell
Immunodeficiency
Profile
normal
IgM cells,
low IgG
and IgA
all normal
Innate immune
deficiency
absence of
myeloperoxidase
Myeloperoxidase
deficiency
ORDER
Individual complement
testing based on results of
CH50, AH50
If all normal,
contact
immunology
director for
further
evaluation
T-cell disorder evaluation Immunoglobulin disorder evaluation
IgA low
Normal IgG
subclasses
Consider celiac
testing
abnormal
DHR
Chronic
granulomatous
disease
decreased
CD11b/CD
18
Leukocyte
adhesion
deficiency, type 1
decreased
CD15
Leukocyte
adhesion
deficiency, type 2
ORDER
Genetic
testing
ORDER
IRAK-4
and toll
receptor
abnormal

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